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  3. TOPORS
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Fetal anomalies

Gene: TOPORS

Amber List (moderate evidence)
TOPORS (TOP1 binding arginine/serine rich protein)
EnsemblGeneIds (GRCh38): ENSG00000197579
EnsemblGeneIds (GRCh37): ENSG00000197579
OMIM: 609507, Gene2Phenotype
TOPORS is in 9 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Homozygosity for the missense variant p.(Pro10Gln) has been reported in 4 unrelated probands with ciliopathy phenotypes including polydactyly and brain abnormalities (34132027, 37227088, 40358237). This variant appears to have high carrier frequency in the Dominican population but is also present in European and African populations in gnomAD. Currently red on multiple ciliopathy panels and amber on Australian FA panel; only 2 published cases at time of previous reviews.Additionally, heterozygous truncating variants between residues 807-867 (not subject to NMD) are associated with autosomal dominant retinitis pigmentosa; green on retinal disorders panel (28453362, 35254173, 35579903, 38592336).
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy, MONDO:0005308

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • ciliopathy, MONDO:0005308
OMIM
609507
Clinvar variants
Variants in TOPORS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: TOPORS was added gene: TOPORS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOPORS were set to 40358237; 37227088; 34132027 Phenotypes for gene: TOPORS were set to ciliopathy, MONDO:0005308